Canonical Allele Identifier: CA526429594

Gene: PKLR

Linked Data

• dbSNP Id: rs1192467745
• gnomAD v2: 1-155259916-A-T
• gnomAD v3: 1-155290125-A-T
• gnomAD v4: 1-155290125-A-T
• MyVariant Identifiers: chr1:g.155259916A>T (hg19) ; chr1:g.155290125A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290125A>T , CM000663.2:g.155290125A>T	GRCh38
NC_000001.10:g.155259916A>T , CM000663.1:g.155259916A>T	GRCh37
NC_000001.9:g.153526540A>T	NCBI36
NG_011677.1:g.16310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*447T>A MANE Select	ENSP00000339933.4:n.*447T>A
ENST00000392414.7:c.*447T>A	ENSP00000376214.3:n.*447T>A
NM_000298.5:c.*447T>A	NP_000289.1:n.*447T>A
NM_181871.3:c.*447T>A	NP_870986.1:n.*447T>A
NM_000298.6:c.*447T>A MANE Select	NP_000289.1:n.*447T>A
NM_181871.4:c.*447T>A	NP_870986.1:n.*447T>A